ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2163C>G (p.Pro721=)

gnomAD frequency: 0.00001  dbSNP: rs1455990789
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536240 SCV001003597 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559712 SCV002731319 likely benign Dyskeratosis congenita 2022-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004711315 SCV005259068 likely benign not provided criteria provided, single submitter not provided

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